Canonical Allele Identifier: CA450612739

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524019A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659221A>T , CM000668.2:g.51659221A>T	GRCh38
NC_000006.11:g.51524019A>T , CM000668.1:g.51524019A>T	GRCh37
NC_000006.10:g.51631978A>T	NCBI36
NG_008753.1:g.433405T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10905T>A MANE Select	ENSP00000360158.3:p.Gly3635=
ENST00000371117.7:c.10905T>A	ENSP00000360158.3:p.Gly3635=
NM_138694.3:c.10905T>A	NP_619639.3:p.Gly3635=
XM_011514679.1:c.10905T>A	XP_011512981.1:p.Gly3635=
XM_011514680.1:c.10905T>A	XP_011512982.1:p.Gly3635=
XM_011514681.1:c.10776T>A	XP_011512983.1:p.Gly3592=
XM_011514682.1:c.10767T>A	XP_011512984.1:p.Gly3589=
XM_011514683.1:c.10263T>A	XP_011512985.1:p.Gly3421=
XM_011514684.1:c.10194T>A	XP_011512986.1:p.Gly3398=
XM_011514687.1:c.10157-10001T>A	XP_011512989.1:n.10157-10001T>A
XM_011514690.1:c.4980T>A	XP_011512992.1:p.Gly1660=
XM_011514691.1:c.4980T>A	XP_011512993.1:p.Gly1660=
XR_926870.1:n.535+6848A>T
XR_926871.1:n.403+6848A>T
XR_926872.1:n.535+6848A>T
XM_011514680.3:c.10905T>A	XP_011512982.1:p.Gly3635=
XM_011514682.3:c.10767T>A	XP_011512984.1:p.Gly3589=
XM_011514683.3:c.10263T>A	XP_011512985.1:p.Gly3421=
XM_011514684.3:c.10194T>A	XP_011512986.1:p.Gly3398=
XM_011514690.3:c.4980T>A	XP_011512992.1:p.Gly1660=
XM_011514691.3:c.4980T>A	XP_011512993.1:p.Gly1660=
XM_017010944.2:c.10905T>A	XP_016866433.1:p.Gly3635=
XM_017010945.2:c.10830T>A	XP_016866434.1:p.Gly3610=
XM_017010946.2:c.10710T>A	XP_016866435.1:p.Gly3570=
XM_017010947.2:c.10641T>A	XP_016866436.1:p.Gly3547=
XM_017010948.2:c.10194T>A	XP_016866437.1:p.Gly3398=
XM_017010949.2:c.9045T>A	XP_016866438.1:p.Gly3015=
XR_001743469.1:n.11181T>A
XR_001744157.1:n.3145+6848A>T
XR_926870.2:n.3145+6848A>T
XR_926871.2:n.3013+6848A>T
XR_926872.2:n.3145+6848A>T
NM_138694.4:c.10905T>A MANE Select	NP_619639.3:p.Gly3635=